Incidental Mutation 'R8011:Fgr'
| ID |
616901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgr
|
| Ensembl Gene |
ENSMUSG00000028874 |
| Gene Name |
FGR proto-oncogene, Src family tyrosine kinase |
| Synonyms |
Ali18, Mhdaali18 |
| MMRRC Submission |
046051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R8011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132701406-132729204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132725790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 400
(Y400H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030693]
[ENSMUST00000171223]
|
| AlphaFold |
P14234 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030693
AA Change: Y400H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030693
Gene: ENSMUSG00000028874
AA Change: Y400H
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
68 |
125 |
5.39e-22 |
SMART |
|
SH2
|
130 |
220 |
5.25e-36 |
SMART |
|
TyrKc
|
251 |
500 |
5.5e-126 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171223
AA Change: Y400H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128411
Gene: ENSMUSG00000028874
AA Change: Y400H
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
68 |
125 |
5.39e-22 |
SMART |
|
SH2
|
130 |
220 |
5.25e-36 |
SMART |
|
TyrKc
|
251 |
500 |
5.5e-126 |
SMART |
|
| Meta Mutation Damage Score |
0.7986 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial reduction in hemorrhage following induction of a local Shwartzman reaction, and show enhanced NK-cell receptor-induced IFN-gamma production in natural killer (NK) cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
| Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
| Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
| Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
| Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
| Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
| Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
| Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
| Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
| Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
| Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
| Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
| Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
| Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
| Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly damaging |
Het |
|
| Other mutations in Fgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02201:Fgr
|
APN |
4 |
132,722,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03089:Fgr
|
APN |
4 |
132,713,577 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1760:Fgr
|
UTSW |
4 |
132,725,653 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1957:Fgr
|
UTSW |
4 |
132,725,673 (GRCm39) |
missense |
probably benign |
|
|
R2011:Fgr
|
UTSW |
4 |
132,724,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Fgr
|
UTSW |
4 |
132,725,786 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2351:Fgr
|
UTSW |
4 |
132,724,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2941:Fgr
|
UTSW |
4 |
132,725,734 (GRCm39) |
missense |
probably benign |
|
|
R3034:Fgr
|
UTSW |
4 |
132,725,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4590:Fgr
|
UTSW |
4 |
132,722,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Fgr
|
UTSW |
4 |
132,714,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4847:Fgr
|
UTSW |
4 |
132,721,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Fgr
|
UTSW |
4 |
132,724,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5384:Fgr
|
UTSW |
4 |
132,713,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5388:Fgr
|
UTSW |
4 |
132,722,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Fgr
|
UTSW |
4 |
132,727,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6947:Fgr
|
UTSW |
4 |
132,722,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7651:Fgr
|
UTSW |
4 |
132,722,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Fgr
|
UTSW |
4 |
132,725,324 (GRCm39) |
missense |
probably benign |
|
|
R7921:Fgr
|
UTSW |
4 |
132,713,832 (GRCm39) |
splice site |
probably null |
|
|
R8238:Fgr
|
UTSW |
4 |
132,724,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Fgr
|
UTSW |
4 |
132,724,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Fgr
|
UTSW |
4 |
132,726,071 (GRCm39) |
intron |
probably benign |
|
|
R8884:Fgr
|
UTSW |
4 |
132,713,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Fgr
|
UTSW |
4 |
132,727,481 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTAGCACCTGCCTCTCA -3'
(R):5'- AGCAATTTAGCAGTGCCTGA -3'
Sequencing Primer
(F):5'- AGCACCTGCCTCTCACTTCC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation